Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | BRAF |
| Variant | T599R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | BRAF T599R lies within the activation segment in the kinase domain of the Braf protein (PMID: 19206169). T599R confers a gain of function on Braf, as indicated by increased MEK and ERK phosphorylation, and is transforming in cell culture (PMID: 19206169, PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
BRAF mutant BRAF act mut BRAF T599R BRAF mutant BRAF T599X BRAF T599R |
| Transcript | NM_004333.6 |
| gDNA | chr7:g.140753339G>C |
| cDNA | c.1796C>G |
| Protein | p.T599R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001378472.1 | chr7:g.140749326_140749327delCTinsGG | c.1796_1797delCTinsGG | p.T599R | RefSeq | GRCh38/hg38 |
| NM_001378473.1 | chr7:g.140749326_140749327delCTinsGG | c.1796_1797delCTinsGG | p.T599R | RefSeq | GRCh38/hg38 |
| NM_004333 | chr7:g.140753339G>C | c.1796C>G | p.T599R | RefSeq | GRCh38/hg38 |
| XM_005250045 | chr7:g.140753339G>C | c.1796C>G | p.T599R | RefSeq | GRCh38/hg38 |
| NM_001378474.1 | chr7:g.140753339G>C | c.1796C>G | p.T599R | RefSeq | GRCh38/hg38 |
| NM_004333.6 | chr7:g.140753339G>C | c.1796C>G | p.T599R | RefSeq | GRCh38/hg38 |
| NM_004333.5 | chr7:g.140753339G>C | c.1796C>G | p.T599R | RefSeq | GRCh38/hg38 |
| NM_001378468.1 | chr7:g.140753339G>C | c.1796C>G | p.T599R | RefSeq | GRCh38/hg38 |
| NM_001354609.2 | chr7:g.140753339G>C | c.1796C>G | p.T599R | RefSeq | GRCh38/hg38 |
| NM_001354609.1 | chr7:g.140753339G>C | c.1796C>G | p.T599R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|